1. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency
- Author
-
H. Korall, Olaf Bodamer, Chike B. Item, Julia Vodopiutz, and Martin Häusler
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Guanidinoacetate methyltransferase deficiency ,Creatine ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Severe speech delay ,030225 pediatrics ,Internal medicine ,medicine ,Humans ,Language Development Disorders ,Global developmental delay ,Amino Acid Metabolism, Inborn Errors ,Extrapyramidal signs ,Muscular hypotonia ,business.industry ,medicine.disease ,Endocrinology ,Creatine synthesis ,chemistry ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Speech delay ,Guanidinoacetate N-Methyltransferase ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Guanidinoacetate methyltransferase deficiency typically presents with muscular hypotonia, global developmental delay, extrapyramidal signs, and seizures during infancy and childhood. The authors report a 5-year-old child with guanidinoacetate methyltransferase deficiency who presented with severe speech delay, emphasizing the importance of an early screening for disorders of creatine synthesis and transport in every infant or child with isolated speech delay of unknown cause.
- Published
- 2007